Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000290117 Individual ID 00396962 Associated disease MCPH Phenotype details see paper; ..., OFC </= -3 SDS; global developmental delay; no/limited (10/10); severe intellectual disability (10/10); autism spectrum disorder (10/10); appendicular spasticity (3/10); no seizures; MRI WM thinning with ventricular dilatation Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite NEDMISBA Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-12-17 20:37:17 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.